MCID: THR030
MIFTS: 14

Thoraco Abdominal Enteric Duplication

Categories: Fetal diseases, Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Thoraco Abdominal Enteric Duplication

MalaCards integrated aliases for Thoraco Abdominal Enteric Duplication:

Name: Thoraco Abdominal Enteric Duplication 52
Thoraco-Abdominal Enteric Duplication 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q43.4
Orphanet 58 ORPHA1759

Summaries for Thoraco Abdominal Enteric Duplication

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1759 Definition Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or melena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported. Visit the Orphanet disease page for more resources.

MalaCards based summary : Thoraco Abdominal Enteric Duplication, also known as thoraco-abdominal enteric duplication, is related to meningocele and dextrocardia. Related phenotypes are respiratory insufficiency and hepatomegaly

Related Diseases for Thoraco Abdominal Enteric Duplication

Diseases related to Thoraco Abdominal Enteric Duplication via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 meningocele 10.1
2 dextrocardia 10.1
3 neurenteric cyst 10.1

Symptoms & Phenotypes for Thoraco Abdominal Enteric Duplication

Human phenotypes related to Thoraco Abdominal Enteric Duplication:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002093
2 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
3 abnormal dermatoglyphics 58 31 hallmark (90%) Very frequent (99-80%) HP:0007477
4 meningocele 58 31 hallmark (90%) Very frequent (99-80%) HP:0002435
5 intestinal malrotation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002566
6 abnormal tricuspid valve morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001702
7 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
8 missing ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000921
9 dextrocardia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001651
10 asymmetric growth 58 31 hallmark (90%) Very frequent (99-80%) HP:0100555
11 duodenal stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100867
12 diastomatomyelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100563

Drugs & Therapeutics for Thoraco Abdominal Enteric Duplication

Search Clinical Trials , NIH Clinical Center for Thoraco Abdominal Enteric Duplication

Genetic Tests for Thoraco Abdominal Enteric Duplication

Anatomical Context for Thoraco Abdominal Enteric Duplication

Publications for Thoraco Abdominal Enteric Duplication

Articles related to Thoraco Abdominal Enteric Duplication:

# Title Authors PMID Year
1
Thoraco-abdominal enteric duplication cyst in association with neurenteric cyst, axial skeletal anomalies, and malrotation. 61
27330613 2013
2
Thoraco-abdominal enteric duplication with meningocele, skeletal anomalies and dextrocardia. 61
2226553 1990

Variations for Thoraco Abdominal Enteric Duplication

Expression for Thoraco Abdominal Enteric Duplication

Search GEO for disease gene expression data for Thoraco Abdominal Enteric Duplication.

Pathways for Thoraco Abdominal Enteric Duplication

GO Terms for Thoraco Abdominal Enteric Duplication

Sources for Thoraco Abdominal Enteric Duplication

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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